Living with Alkaptonuria
An inherited condition that causes dark urine, dark pigment in tissues, arthritis, and kidney stones.
Understanding Alkaptonuria
The first sign is often urine that turns black or very dark when exposed to air. Ochronosis, a buildup of blue-black pigment in connective tissues, is a key feature. Pigment changes show in the whites of the eyes, outer ears, and hands, usually after age 30. Arthritis typically begins in early adulthood, mostly in the spine and large joints, and many people need joint replacements later in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Urine that turns dark when exposed to air
- Arthritis
- Back pain
- Dark pigment changes in the skin, eyes, and ears
- Kidney stones
- Heart valve problems, including calcium buildup
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in HGD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The AKU Society of North America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HGD gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: aku; alcaptonuria; alkaptonuric ochronosis; deficiency of homogentisate 1,2-dioxygenase; deficiency of homogentisate oxygenase; deficiency of homogentisicase
Patient organizations
- The AKU Society of North AmericaAlkaptonuria · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Alkaptonuria.
Explore research for Alkaptonuria
Explore actively recruiting Alkaptonuria studies with HealthSpark.
Find actively recruiting studies for Alkaptonuria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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